title: High prevalence of peripheral retinal vascular anomalies in family members of patients with familial exudative vitreoretinopathy.
abstract: OBJECTIVE
  To describe the prevalence and severity of familial exudative vitreoretinopathy (FEVR) in asymptomatic relatives of known symptomatic FEVR patients.
  
  
  METHODS
  Uncontrolled and retrospective case series at a single tertiary referral vitreoretinal practice.
  
  
  METHODS
  A total of 148 eyes of 74 subjects were studied.
  
  
  METHODS
  A retrospective chart review was conducted of patients with a diagnosis of FEVR between January 2011 and January 2013 at a single tertiary care retina practice. Data were collected from patient charts, including sex, gestational age at birth, age at presentation, referring diagnosis, family history, prior ocular surgery, clinical presentation, and diagnostic imaging in each eye. Inclusion criteria included confirmed clinical diagnosis of FEVR in patients referred to our clinic for evaluation of decreased vision. Patients were excluded if a definitive diagnosis of FEVR could not be made.
  
  
  METHODS
  Clinical and angiographic findings.
  
  
  RESULTS
  A total of 74 subjects from 17 separate families met the inclusion criteria for this study. There were an average of 4.4 subjects per family included in this study. The cohort was 55% male and included 17 patients and 57 family members who agreed to undergo genotyping, examination, and diagnostic imaging. Forty-three percent of FEVR patients had detectable mutations in FZD4, NDP, or TSPAN12. Only 8% of the cohort reported a positive family history of FEVR in a first-degree relative. Among the index patients, 76% had clinical stage 3, 4, or 5 FEVR and 24% had stage 1 or 2 FEVR. Among the asymptomatic family members screened, 58% demonstrated clinical or angiographic findings consistent with stage 1 or 2 FEVR and 21% demonstrated clinical or angiographic findings consistent with stage 3, 4, or 5 FEVR.
  
  
  CONCLUSIONS
  Asymptomatic family members of FEVR patients frequently have early manifestations of FEVR (stage 1 or 2). Early-stage FEVR may progress to more advanced stages, which can result in vision loss. These data support the use of angiographic screening and clinical examination in immediate relatives of patients with symptomatic FEVR.
authors.affiliation: Associated Retinal Consultants, P.C., Royal Oak, Michigan; Department of Ophthalmology, William Beaumont Hospital, Royal Oak, Michigan.
authors.forename: Amir H
authors.initials: AH
authors.lastname: Kashani
authors.affiliation: Department of Ophthalmology, William Beaumont Hospital, Royal Oak, Michigan.
authors.forename: Daniel
authors.initials: D
authors.lastname: Learned
authors.affiliation: Associated Retinal Consultants, P.C., Royal Oak, Michigan; Department of Ophthalmology, William Beaumont Hospital, Royal Oak, Michigan.
authors.forename: Eric
authors.initials: E
authors.lastname: Nudleman
authors.affiliation: Associated Retinal Consultants, P.C., Royal Oak, Michigan; Department of Ophthalmology, William Beaumont Hospital, Royal Oak, Michigan.
authors.forename: Kimberly A
authors.initials: KA
authors.lastname: Drenser
authors.affiliation: Associated Retinal Consultants, P.C., Royal Oak, Michigan; Department of Ophthalmology, William Beaumont Hospital, Royal Oak, Michigan.
authors.forename: Antonio
authors.initials: A
authors.lastname: Capone
authors.affiliation: Associated Retinal Consultants, P.C., Royal Oak, Michigan; Department of Ophthalmology, William Beaumont Hospital, Royal Oak, Michigan. Electronic address: mgjt46@aol.com.
authors.forename: Michael T
authors.initials: MT
authors.lastname: Trese
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D015785:Eye Diseases, Hereditary; D005136:Eye Proteins / Q000235:genetics; D000080345:Familial Exudative Vitreoretinopathies; D005260:Female; D005451:Fluorescein Angiography; D051157:Frizzled Receptors / Q000235:genetics; D060005:Genotyping Techniques; D005865:Gestational Age; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics; D010375:Pedigree; D015995:Prevalence; D012164:Retinal Diseases / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics; D012171:Retinal Vessels / Q000002:abnormalities* / Q000473:pathology; D012189:Retrospective Studies; D059470:Tetraspanins / Q000235:genetics; D014792:Visual Acuity; D055815:Young Adult
chemical_list: D005136:Eye Proteins; C402930:FZD4 protein, human; D051157:Frizzled Receptors; C081848:NDP protein, human; D009419:Nerve Tissue Proteins; C545100:TSPAN12 protein, human; D059470:Tetraspanins